Incidental Mutation 'IGL03232:Cimip2a'
| ID |
413947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cimip2a
|
| Ensembl Gene |
ENSMUSG00000026969 |
| Gene Name |
ciliary microtubule inner protein 2A |
| Synonyms |
Fam166a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL03232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25108757-25112292 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 25111751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 277
(R277*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028346]
[ENSMUST00000043584]
|
| AlphaFold |
Q9D4K5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028346
AA Change: R277*
|
| SMART Domains |
Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: R277*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
13 |
71 |
8.1e-16 |
PFAM |
|
low complexity region
|
130 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043584
|
| SMART Domains |
Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
1.04e-67 |
SMART |
|
Tubulin_C
|
246 |
383 |
3.89e-49 |
SMART |
|
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145607
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
| Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
| Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
| Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
| H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
| Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
| Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
| Other mutations in Cimip2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Cimip2a
|
APN |
2 |
25,110,345 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01712:Cimip2a
|
APN |
2 |
25,108,804 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03056:Cimip2a
|
APN |
2 |
25,111,367 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0368:Cimip2a
|
UTSW |
2 |
25,110,685 (GRCm39) |
missense |
probably benign |
|
|
R0761:Cimip2a
|
UTSW |
2 |
25,110,135 (GRCm39) |
unclassified |
probably benign |
|
|
R1997:Cimip2a
|
UTSW |
2 |
25,110,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Cimip2a
|
UTSW |
2 |
25,110,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4575:Cimip2a
|
UTSW |
2 |
25,110,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4576:Cimip2a
|
UTSW |
2 |
25,110,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4577:Cimip2a
|
UTSW |
2 |
25,110,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4578:Cimip2a
|
UTSW |
2 |
25,110,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5829:Cimip2a
|
UTSW |
2 |
25,108,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5896:Cimip2a
|
UTSW |
2 |
25,110,578 (GRCm39) |
missense |
probably benign |
|
|
R6618:Cimip2a
|
UTSW |
2 |
25,110,635 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6905:Cimip2a
|
UTSW |
2 |
25,110,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Cimip2a
|
UTSW |
2 |
25,110,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7636:Cimip2a
|
UTSW |
2 |
25,108,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation